CMT 1B: Myelin protein zero Val102fs mutation manifesting with isolated spinal r

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Neuromuscul Disord. 2009 Nov 9. [Epub ahead of print]

Myelin protein zero Val102fs mutation manifesting with isolated spinal root

hypertrophy.

Marchini C, Marsala SZ, Bendini M, Taioli F, Damante G, Lonigro IR, Fabrizi GM.

Department of Neurology San o's Hospital, Belluno, Italy.

The Val102fs mutation of the myelin protein zero gene (MPZ) has been associated

with Charcot-Marie-Tooth disease type 1B (CMT1B).

Here we describe an unusual presentation of the Val102fs mutation characterized

by symptoms of spinal root hypertrophy with no overt peroneal muscular atrophy.

Two sisters aged 41 and 35years complained of neck pain and presented only pes

cavus or deep-tendon hyporeflexia.

In both of them magnetic resonance imaging revealed non-enhancing hypertrophy of

spinal roots misdiagnosed as neurofibromatosis; neurophysiology disclosed a

demyelinating neuropathy and addressed the correct molecular diagnosis. This

report adds new data concerning the clinical presentations of MPZ mutations.